Drug-Induced Hyperkalemia Mimicking Guillain-Barre Syndrome
Korean Journal of Neuromuscular Disorders.2020;12(2):44-46. doi:10.46518/kjnmd.2020.12.2.44
Korean Journal of Neuromuscular Disorders
2009 (1, 1) to Present ISSN: 2093-3312
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Isolated Unilateral Ptosis Caused by Idiopathic Orbital Myositis
Korean Journal of Neuromuscular Disorders.2020;12(2):39-43. doi:10.46518/kjnmd.2020.12.2.39
Idiopathic orbital myositis is considered as a subgroup of idiopathic orbital inflammatory disease. It is a non-infectious inflammatory disorder primarily affecting the extraocular muscles and causes various eye symptoms including pain, diplopia and limitation of extraocular movement. Cases of isolated ptosis by idiopathic orbital myositis have been very rarely described in the literature. We report a patient who developed unilateral painless ptosis caused by idiopathic orbital myositis. A 52-year-old man presented with drooping of the right eyelid for 3 days. There was no history of headache, double vision or any other complaints. Neurological examination revealed right ptosis without pupil and extraocular muscles involvement. Repetitive nerve stimulation test was normal. Ptosis did not improve after the neostigmine injection. Magnetic resonance imaging scan showed asymmetric enlargement of right superior rectus/levator palpebrae superioris muscle complex and medial rectus muscle. Ptosis resolved dramatically after oral corticosteroid therapy. Isolated unilateral ptosis can be caused by various etiologies. Idiopathic orbital myositis should be considered in the differential diagnosis of ptosis.
Korean Journal of Neuromuscular Disorders.2020;12(2):36-38. doi:10.46518/kjnmd.2020.12.2.36
In Guillain-Barré syndrome (GBS) and its variant, anti-GQ1b antibody has a pathogenic role for ophthalmoplegia. In addition, anti-GT1a antibody is related with lower cranial nerve involvement. This report describes a 60-year-old male patient with GBS manifesting with initially isolated dysphagia and subsequently developed ophthalmoplegia. Both immunoglobulin G type anti-GQ1b and anti-GT1a antibodies were detected in the patient’s serum. A mechanism regarding subsequent involvement of respective cranial nerves remains to be elucidated.
Korean Journal of Neuromuscular Disorders.2020;12(2):32-35. doi:10.46518/kjnmd.2020.12.2.32
Background:
Orthostatic intolerance (OI) is a common clinical symptom in dizziness clinic. The head-up tilt table test (HUT) is one of the primary clinical examination for evaluating OI. There is no consensus on the optimum method for diagnosis of orthostatic hypotension (OH). Herein, we performed the additional squat combined with blood pressure (BP) monitoring for OI patients with normal HUT.
Methods:
The study included 32 consecutive patients with orthostatic intolerance for 3 months since April, 2018 (Period I) and 27 patients with orthostatic intolerance for 3 months since April, 2019 (Period II) in dizziness clinic of Chungnam National University Hospital. During Period II, the additional squat combined with BP test was performed for normal HUT results in patients with OI. In squat combined orthostatic BP measurement, the first BP measurement was taken following 3 minutes of rest at the squat position; afterwards the patients were raised upright and the measurement was monitored for 2 minutes, using a continuous beat-to-beat BP monitoring.
Results:
In this study, there was significant difference in OH diagnosis (p<0.001); 40.6% (13/32) by conventional HUT (Period I) vs. 92.5% (25/33) by conventional HUT and additional squat test for normal HUT (Period II). In patients with normal HUT, the positive OH was 86.7% (13/15) by the additional squat combined BP measurement (Period II).
Conclusions
In addition to HUT, squat test combined with BP measurement might be more informative for understanding and diagnosing the OH, particularly in patients with OI and normal HUT in dizziness clinic.
Korean Journal of Neuromuscular Disorders.2020;12(2):24-31. doi:10.46518/kjnmd.2020.12.2.24
Background:
The median-to-ulnar comparison test (MUCT), and increasingly, ultrasonography (US) are considered as complementary to and more sensitive than median nerve conduction study (NCS) in diagnosing carpal tunnel syndrome (CTS).
Methods:
In consecutive patients with hand paresthesia compatible with CTS but with normal median NCS, we additionally performed the MUCT and analyzed whether it yielded better diagnostic sensitivity.
Results:
In total, 163 hands of clinically diagnosed CTS patients were examined with routine NCS. The MUCT and US were performed in 81 hands and 31 hands, respectively. While median NCS was diagnostic in 85 (52.1%) hands, MUCT failed to demonstrate superior sensitivity over median NCS in the other hands and US revealed related abnormalities better than both routine NCS (p=0.006) and MUCT (p=0.002).
Conclusions
The MUCT offered no additional diagnostic benefit. On the other hand, sonographic examination had higher sensitivity for the diagnosis of CTS when applying several diagnostic criteria. Thus, US could be the screening test for diagnosing CTS prior to NCS with higher sensitivity than MUCT. However, further studies are needed to define the appropriate diagnostic criteria for US.
Clinical Characteristics of Korean Juvenile Amyotrophic Lateral Sclerosis
Korean Journal of Neuromuscular Disorders.2020;12(2):17-23. doi:10.46518/kjnmd.2020.12.2.17
Background:
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive motor neuron degeneration with phenotypic heterogeneity, including age at onset. Juvenile ALS (JALS) includes ALS patients aged less than 25 years who typically show slow progression. This study aimed to identify the characteristics of juvenile ALS from Korean ALS cohorts.
Methods:
We retrospectively investigated the clinical characteristics of JALS patients, who met the revised El Escorial-Airlie House criteria, in the Korean motor neuron disease cohort om January 2002 to November 2018. To evaluate the genetic background ofin JALS, we screened the SOD1 mutation in all JALS patients using PCR.
Results:
Among the seven JALS patients, the mean age was 22.1 years (± 2.19 years) and 4 patients were male. Most patients were diagnosed within less than 12 months, but in one patient, it took 96 months to make the initial diagnosis. On assessing the cognitive function, none of the patients had dementia. The progression rate of JALS during follow-up was usually low (median [IQR], 0.31 [0.11-0.52]), except in patients with SOD1 mutation (3.40) and CLEC4C mutation (1.12). One patient revealed a family history of ALS with SOD1 mutation, but we also detected the SOD1 mutation among sporadic JALS patients.
Conclusions
Although JALS patients with genetic mutations (SOD1-p.Asn87Ser and CLEC4C-p.Lys210*) showed faster progression than other JALS patients, one patient with SOD1 mutation (p.Gly17Ala) showed slow progression. Familial ALS was rare; however, it might be caused by low or incomplete penetrance of the genes or by small number of JALS patients. To investigate the other genetic causes of JALS without the SOD1 mutation, a further study including detailed genetic analysis is needed.
Statin-Naïve Paraneoplastic Anti-HMGCR Myopathy
Korean Journal of Neuromuscular Disorders.2021;13(1):15-19. doi:10.46518/kjnmd.2021.13.1.15
Anti-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase (anti-HMGCR) myopathy is a subtype of immune-mediated necrotizing myopathy regardless of exposure to statins. Necrotizing myopathy is distinguished by necrotic muscle fibers with a relative lack of inflammation. It is frequently associated with a high risk of permanent muscle damage and disability. Recent studies have suggested a slightly increased risk of cancer in patients with anti-HMGCR myopathy. This report describes a case of statin-naïve paraneoplastic anti-HMGCR myopathy, with rapidly progressive muscle weakness leading to respiratory failure.
Korean Journal of Neuromuscular Disorders.2021;13(1):11-14. doi:10.46518/kjnmd.2021.13.1.11
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset myopathy caused by (GCN) expansions in the polyalanine binding protein nuclear 1 gene (PABPN1) located on chromosome 14q11. This study reports a case of an incomplete clinical characteristics of OPMD with heterozygous (GCN)11 expansion. A fifty-nine-year-old Korean woman was suffering from non-progressive dysarthria, dysphagia for five years. Neurologic findings were unremarkable except for tongue atrophy and mild ptosis. A genetic screening confirmed heterozygous (GCN)11 expansion in the PABPN1 gene.
Diagnostic Approach to the Suspected Cases of Hereditary Spastic Paraplegia
Korean Journal of Neuromuscular Disorders.2021;13(1):4-10. doi:10.46518/kjnmd.2021.13.1.4
Hereditary spastic paraplegia (HSP) is a heterogeneous group of monogenic neurodegenerative disorders characterized by progressive spasticity of the lower limbs. The clinical features and imaging abnormalities vary greatly according to the affected genes. HSP is classified clinically as pure and complex forms, depending upon the presence or absence of additional neurological defects other than spastic lower limbs. Despite the recent advances in next-generation sequencing technology and its wide availability, a genetic diagnosis of HSP is still not made in more than half of all suspected cases of HSP. In this review, we summarized the various phenotypes of relatively common HSP in clinical practice according to the inheritance pattern, highlighting their clinical, radiological, and neurophysiological features. We further discussed the practical approach to patients with suspected HSP in the current era of next-generation sequencing.
Practical Diagnostic Approach to Myopathy
Korean Journal of Neuromuscular Disorders.2021;13(1):1-3. doi:10.46518/kjnmd.2021.13.1.1
Hereditary myopathy is characterized by the weakness of skeletal muscles and is associated with various genetic defects. The efficiency of a genetic diagnosis has been archived with wide application of next-generation sequencing (NGS) recently. However, the establishment of the correct diagnosis of hereditary myopathy is still challenging and sometimes requires other methods of genetic analysis besides NGS. Therefore, clinicians still have crucial roles in analyzing the causative genes. In this article, we introduced the genetic analysis approach in the clinical field.
Country
Republic of Korea
Publisher
The Korean Society of Neuromuscular Disorders
ElectronicLinks
http://knmd.or.krEditor-in-chief
Kweon, Ohyun
knmd1594@daum.net
Abbreviation
Korean J Neuromuscul Disord
Vernacular Journal Title
대한신경근육질환학회지
ISSN
2093-3312
EISSN
Year Approved
2019
Current Indexing Status
Currently Indexed
Start Year
2009
Description
Korean Journal of Neuromuscular Disorders is the official journal of the Korean Society of Neuromuscular Disorder publishing scientific and creative research papers in the field of neuromuscular disorders and related subjects
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